Whole Exome Sequencing
What is Whole Exome Sequencing?
Whole Exome Sequencing (WES) is a technique for sequencing the exonic regions on the DNA. Exome comprises about 1-2% of the whole GENOME, CODES FOR ~23,000 GENES IN HUMANS. Being the protein coding region, ~85% OF disease-causing mutations in Mendelian disorders and many disease-predisposing SNPs are clinically associated with the exomes, sequencing the entire exome can provide detailed insights on the genetic variations.1
Clinical Utility
- To Diagnose the disease -causing variants associated with the suspected cases.
- Differentiation between de novo(new unexplained mutations) and familial history of disorders.
- To influence the management of the conditions/disorders in a better way including lifestyle interventions.
When is WES Recommended?
- Molecular Diagnosis - identify the variations in the exon regions, variants of a disease or disease-causing mutations associated in suspected cases.
- Undiagnosed Conditions - In cases where no diagnosis has been made, but clinical presentation is suggestive of a genetic condition.
- Detect disease-causing heterozygous variants in genes associated with autosomal dominant conditions, homozygous/compound heterozygous variants in genes associated with autosomal recessive conditions.
- Test for single-gene and multigene conditions. Ideal for targeted management of complex syndromes. - neurodevelopmental disorders, intellectual disability, global developmental delay, autism spectrum disorder.
- To end the Diagnostic Odyssey.
- Provide accurate recurrence risks for family members & prognosis.
MapmyGenome - Offerings
- Extensive coverage of all genes in the human genome ~23000 genes & mitochondrial genes
- Raw data is analyzed using a comprehensive bioinformatics pipelines
- Pathogenic, Likely Pathogenic, VuS are reported as per the ACMG guidelines & ClinVar
- Covers more than 98% of targeted exons, with a Sensitivity of 95.9% & Specificity of 98.7%
- Genetic counseling - to guide through the report and discuss the availability management/treatment options in case of clinical findings
- Primary findings are reported according to the clinical phenotype & ACMG guidelines. Incidental findings and carrier findings are reported as per ACMG and ACOG recommendations.
Test specification
| Technique | Coverage | Variant types | TAT | Sample requirements |
|---|---|---|---|---|
| NGS | 150 - 180x | SNV + CNV | 3 -4 weeks | CVS Sample, Amniotic Fluid, Cultured Cells - Cell Pellet in 1.5mL tube, Extracted DNA samples (1µg - 2µg), 3-4ml EDTA Blood, FFPE (Formalin-Fixed Paraffin-Embedded) Sample - Somatic cases |
References
- Rabbani, B., Tekin, M. & Mahdieh, N. The promise of whole-exome sequencing in medical genetics. J Hum Genet 59, 5–15 (2014). https://doi.org/10.1038/jhg.2013.114
FAQs
What is exome sequencing?
Exome is the protein coding region of our DNA and it makes up ~2 % of our crucial Genome. Whole Exome Sequencing is a diagnostic tool to analyze all of the genes (~23,000) that make up an individual’s exome.
When should whole exome sequencing be considered?
Is my WES report kept confidential?
Is it possible to get a copy of the raw data?
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